Publications by Medical Specialty - Genetics
These publications were authored or co-authored by Quest Diagnostics staff.
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Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Authors: Bean LJH, Funke B, Carlston CM, Gannon JL, Kantarci S, Krock BL, Zhang S, Bayrak-Toydemir P
Genet Med. 2019 Nov 16. doi: 10.1038/s41436-019-0666-z. [Epub ahead of print]
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Authors: Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.
Genet Med. 2019 Nov 6. doi: 10.1038/s41436-019-0686-8. [Epub ahead of print]
Authors: Cho MT and Guy C.
Cold Spring Harb Perspect Med 2019 Sep 30. doi: 10.1101/cshperspect.a036574. [Epub ahead of print]
Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ Hereditary Xerocytosis (HX) red cells.
Authors: Rivera A, Vandorpe DH, Shmukler BE, Andolfo I, Iolascon A, Archer NM, Shabani E, Auerbach M, Hamerschlak N, Morton J, Wohlgemuth JG, Brugnara C, Snyder LM, Alper SL.
Am J Physiol Cell Physiol. 2019 May 15. doi: 10.1152/ajpcell.00074.2019. [Epub ahead of print]
Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.
Authors: Burns K, Swanson A, Hoskovec J, Leonhard J, Hahn S, Stein QP.
J Genet Counsl. 2019 May 6. doi: 10.1002/jgc4.1129. [Epub ahead of print]
Laboratory validation of a clinical metagenomic sequencing assay for pathogen detection in cerebrospinal fluid.
Authors: Miller S, Naccache SN, Samayoa E, Messacar K, Arevalo S, Federman S, Stryke D, Pham E, Fung B, Bolosky WJ, Ingebrigtsen D, Lorizio W, Paff SM, Leake JA, Pesano R, DeBiasi R, Dominguez S, Chiu CY
Genomer Res. 2019 May;29:831-842. [Epub 2019 Apr 16.]
Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies.
Authors: Wang JC, Radcliff J, Coe SJ, Mahon LW.
Prenat Diagn. 2019 Feb;39(3):137-156.
Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory.
Authors: Guy C, Haji-Sheikhi F, Rowland CM, Anderson B, Owen R, Lacbawan FL, Alagia DP
Mol Genet Genomic Med. 2019 Jan 31:e545. doi: 10.1002/mgg3.545. [Epub ahead of print]
Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
Authors: Chun K, Wenger GD, Chaubey A, Dash DP, Kanagal-Shamanna R, Kantarci S, Kolhe R, Van Dyke DL, Wang L, Wolff DJ, Miron PM.
Cancer Genet. 2018 Dec;228-229:236-250.
PAX5, NOTCH3, CBFB, and ACD drive an activated RAS pathway and monosomy 7 to B-ALL and AML in donor cell leukemia.
Authors: Assi R, Mahfouz R, Owen R, Gunthorpe M, Chehab FF, Bazarbachi A.
Bone Marrow Transplant. 2018 Dec 10. doi: 10.1038/s41409-018-0419-7. [Epub ahead of print]